Canonical Allele Identifier: CA414517799

Gene: IDS

Linked Data

• ClinVar Variation Id: 996935
• ClinVar RCV Id: RCV001291747
• dbSNP Id: rs2089303696
• MyVariant Identifiers: chrX:g.148564362T>C (hg19) ; chrX:g.149482831T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482831T>C , CM000685.2:g.149482831T>C	GRCh38
NC_000023.10:g.148564362T>C , CM000685.1:g.148564362T>C	GRCh37
NC_000023.9:g.148372267T>C	NCBI36
NG_011900.3:g.27504A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1568A>G MANE Select	ENSP00000339801.6:p.Tyr523Cys
ENST00000651111.1:c.935A>G	ENSP00000498395.1:p.Tyr312Cys
ENST00000340855.10:c.1568A>G	ENSP00000339801.6:p.Tyr523Cys
ENST00000422081.6:c.935A>G	ENSP00000477056.1:p.Tyr312Cys
NM_000202.6:c.1568A>G	NP_000193.1:p.Tyr523Cys
NM_001166550.2:c.1298A>G	NP_001160022.1:p.Tyr433Cys
NM_000202.7:c.1568A>G	NP_000193.1:p.Tyr523Cys
NM_001166550.3:c.1298A>G	NP_001160022.1:p.Tyr433Cys
NM_000202.8:c.1568A>G MANE Select	NP_000193.1:p.Tyr523Cys
NM_001166550.4:c.1298A>G	NP_001160022.1:p.Tyr433Cys